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Rothmund-Thomson Syndrome

definition

Autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by saddle nose, congenital bone defects, disturbances in the growth of hair, nails, and teeth, and hypogonadism. Juvenile cataracts develop in about half of patients. Skeletal dysplasia is an important feature of the syndrome. The increased incidence of squamous carcinomas of the skin and osteogenic sarcoma is the major prognostic factor.